China
Africa
Explore chapters and articles related to this topic
Assessment of fetal genetic disorders
Published in Hung N. Winn, Frank A. Chervenak, Roberto Romero, Clinical Maternal-Fetal Medicine Online, 2021
Teresa Martino, J. Pratt Rossiter, Karin J. Blakemore
Not only have the indications for referral for prenatal diagnosis have expanded over the last four decades, but also the methods available to prenatally detect genetic disorders have also expanded. In addition to amniocentesis, invasive diagnostic methods currently include CVS, fetal blood sampling, and fetal biopsy for specific indications. Samples obtained by these techniques are used for cytogenetic analysis (karyotype, fluorescence in situ hybridization (FISH), array comparative genomic hybridization), molecular DNA diagnosis, and/or biochemical evaluation, dependent on the specific disorder being investigated. Each invasive procedure has risks and benefits to be considered when offering diagnostic testing.
Ultrasound Guided Procedures in Small-For-Gestation
Published in Asim Kurjak, John M. Beazley, Fetal Growth Retardation: Diagnosis and Treatment, 2020
R. J. Bradley, K. H. Nicolaides
The finding of an SGA fetus, especially when severely affected and of early onset, in the second trimester, raises the possibility of the fetus being chromosomally abnormal.10, 11 Fetal structural malformations, detected by ultrasound, increase the likelihood of an underlying abnormal karyotype,12 as do some more subtle morphological markers.13 The finding of an abnormal chromosomal complement in the second trimester will allow the option of abortion, but we feel that this investigation should be performed even in the third trimester, as the knowledge of a serious chromosomal defect may alter the management of labor and delivery. For example, at present, up to 53% of fetuses with trisomy 18 are delivered by caesarean section, being undiagnosed before delivery.14 Fetal karyotype can be determined by cytogenetic analysis of amniotic fluid, placental biopsy material, or fetal blood.
Transfer of Mosaic Embryos
Published in Darren K. Griffin, Gary L. Harton, Preimplantation Genetic Testing, 2020
Francesco Fiorentino, Ermanno Greco, Maria Giulia Minasi, Francesca Spinella
Patients considering transfer of mosaic embryos must receive thorough genetic counseling about potential pregnancy risks and outcomes; they should be made aware that these mosaic embryos may be characterized by decreased implantation and pregnancy potential as well as increased risk of genetic abnormalities and adverse pregnancy outcomes. Pretest counseling should include a discussion about the frequency of mosaic results, the challenges associated with interpretation of the results, the possibility of a false positive diagnosis of embryonic mosaicism, and the limited predictive data available. Genetic counseling should also inform the patient that mosaicism found in a TE biopsy may have clinical implications for the pregnancy and/or may result in live births with mosaic aneuploidies. Confirmation of the fetal karyotype by invasive prenatal diagnosis, preferably amniocentesis, should also be suggested for any ensued pregnancy. Experts in the reproductive field recommended prioritization of euploid embryos over mosaic embryos for transfer and only consider mosaics for replacement when no euploid embryos are available [35].
Reproductive outcomes in couples with sporadic miscarriage after embryonic chromosomal microarray analysis
Published in Annals of Medicine, 2023
Zhengyi Xia, Ran Zhou, Yiming Li, Lulu Meng, Mingtao Huang, Jianxin Tan, Fengchang Qiao, Hui Zhu, Ping Hu, Qiaoying Zhu, Zhengfeng Xu, Yan Wang
From August 2011 to December 2019, a total of 1142 SM couples referred to Nanjing Maternity and Child Health Care Hospital (Jiangsu, China) for embryonic genetic testing by CMA. Informed consent of genetic testing was obtained from all patients before CMA testing. Parental study was performed by karyotype analysis, fluorescence in situ hybridization (FISH) or CMA testing according to embryonic CMA results. Genetic counselling was offered to all individuals. Maternal age, gestational age of the index miscarriage (the first clinical miscarriage in our study) and previous reproductive history were recorded. The mean maternal age was 29.0 years (range 18.0 to 44.0) and the mean gestational age was 10.0 weeks (range 6.0 to 18.0) in this cohort of 1142 couples. Couples with live birth, biochemical miscarriage, ectopic pregnancy, therapeutic abortion or induced abortion before the index miscarriage were included in the current study. This study was approved by the Medicine Ethics Committee of Nanjing Maternity and Child Health Care Hospital (2021KY004).
Exploiting gene mutations and biomarkers to guide treatment recommendations in mantle cell lymphoma
Published in Expert Review of Hematology, 2021
In the present review we summarized the currents status of prognostic factors in MCL and their impact on managing patients. Though the list of prognostic factors reported has grown substantially, they so far had limited impact on how to decide on treatment options. The current standards of chemoimmunotherapy established over the last 3 decades have been essentially based on the dose intensity/age dichotomy. While there has been an improvement in the treatment of mantle cell lymphoma (MCL) in both median progression-free survival (PFS; >7–8 years) and overall survival (OS; >10–12 years), patients with high-risk features such as high risk MIPI (mantle cell international prognostic index), high Ki-67 (≥30%), or blastoid variants still carry poor outcome with a median OS of 3 years. Furthermore, patients with high-risk molecular features, such as TP53 mutations show dismal outcome, with a median OS of 1.8 years, regardless of therapy used. Other abnormalities are associated with worse outcome in particular complex karyotypes. In addition, RWD show a much more humbling reality with not only a great heterogeneity in the management of patients but a median PFS and OS well below ½ what has been observed in trials. On the other hand, RWD have also revealed the positive impact of novel therapies approved for the treatment of relapsed/refractory (R/R) MCL (6 new agents approved in the US), leading to durable responses and improved survival even in refractory or high-risk patients.
Oliver McFarlane syndrome: two new cases and a review of the literature
Published in Ophthalmic Genetics, 2021
Kristian Lisbjerg, Mette K. G. Andersen, Mette Bertelsen, Agnes G. Brost, Frederik F. Buchvald, Rikke B. Jensen, Anne-Marie Bisgaard, Thomas Rosenberg, Zeynep Tümer, Line Kessel
Parents noticed visual difficulties from the age of two. At the age of three years, the patient underwent an ophthalmological examination at which point poor visual acuity equivalent to 20/200 (binocular) and a pale fundus with peripheral pigmentations was noted. The signs of severe chorioretinal degeneration were confirmed with ff-ERG that showed extinguished dark-adapted single flash and only a slight residual flicker response indicating absent rod function and very limited cone function. Complete night blindness was reported. The diagnosis at this point was early-onset retinitis pigmentosa. Fundoscopic findings were described as choroideremia-like. Due to dysmorphic features (Figure 1), growth retardation, and retinal degeneration a syndrome was suspected, and in the following years several clinical investigations were performed in the pursuit of a more exact diagnose. Chromosome analysis showed a normal female karyotype, 46,XX. The hair was examined for suspected Menkes disease or trichothiodystrophy but with no conclusive findings. At the age of three, thyroidal parameters were normal and clonidine stimulation of growth hormone (GH) also showed a normal result. Growth retardation persisted and by the age of 10, treatment with GH was initiated and she ended up with an adult height of 158 cm.